In December of 2007, I had just finished navigating the first trimester of my second pregnancy and was relaxing into what I hoped would be a gentle cruise toward delivery. The prenatal tests had come back within normal limits, it had been two weeks since the 18-week ultrasound, and I had not heard anything from my doctor’s office.
Confident that the potential for surprise had passed, I went to my 20-week checkup. Dr. Stark (an apt name) reviewed my paperwork as my 2-year-old son bounced on my shrinking lap (thank you, pregnancy bump).
“So they told you about the cysts in the baby’s brain?” she asked. My stomach immediately tightened. Dumbfounded, I replied, “No, the ultrasound tech said everything looked good.”
The doctor started speaking very fast. Between the roar of anxiety welling in my chest and my son bouncing on my knees, I caught only the words: “chromosomal abnormality.”
Dr. Stark left the room and returned with a photocopy of the ultrasound report. At the bottom, the words “bilateral CPCs” were circled in red felt-tip marker.
“We don’t recommend amniocentesis in this case,” she said, handing me my dismissal slip.
I was now clutching at the rails, weathering eight-foot rollers on a stormy sea.
Choroid plexus cysts (CPCs) are fluid-filled sacs that show up in the fetal brain between 18-24 weeks in one percent of pregnancies. Though they cause no injury to the fetus, they are associated with Edward’s Syndrome, a severe disorder caused by an extra copy of the 18th chromosome. Babies with Edward’s Syndrome have severe mental and physical retardation; fewer than 10 percent live past the first year.
CPCs are one of a group of “soft markers,” which are findings on ultrasounds that are associated with an increased risk of a chromosomal abnormality. But they’re also present in some healthy fetuses. As long as the CPCs are found in isolation (meaning without additional markers or risk factors), the risk of a chromosomal abnormality (like Down Syndrome or Edward’s Syndrome), though elevated, is still less than the 2 percent risk of miscarriage posed by an amniocentesis.
The only way to know for sure if the baby is healthy is to have an amniocentesis. But even though doctors tell patients that their baby has a soft marker, which indicates something may be wrong, they advise patients against amniocentesis, because the risk of losing the pregnancy as a result of it is greater than the risk of the baby having a birth defect in the first place.
The upshot: Parents are given alarming, ambiguous information while being advised not to have further, definitive prenatal testing.
I commenced Googling and came upon ChoroidPlexusCyst.org, a website devoted to expectant parents who have had CPCs detected in their fetuses.
“My wife came home from an appointment with the doctor who told her about the CPCs. I was completely freaked out,” recalls Ed Sherretta, who created the site to give scared parents a place to connect.
The site was a godsend; I was able to relieve some of my anxiety through reading hundreds of accounts of positive outcomes and found studies showing no evidence linking isolated CPCs with Edward’s Syndrome in women under 35 (which I was).
At the next checkup, Dr. Love (another apt name) was apologetic about Dr. Stark’s lack of empathy and offered a follow-up ultrasound to put my mind at ease. I declined.
I did not want to re-open Pandora’s box.
Why, when studies show no increased risk of a fetus with isolated CPCs having Edward’s Syndrome, was I given terrifying, ambiguous, and ultimately unhelpful information? Ignorance is bliss, right?
Dr. Roy Filly, cofounder of the Fetal Treatment Center at the University of California at San Francisco’s Children’s Hospital, has posed the same question to the medical community. In a 2000 editorial in the Journal of Ultrasound Medicine, he argued that the costs of reporting this information to women outweigh the benefits, and called on the American Congress of Obstetrics and Gynecology (ACOG) and the American Institute of Ultrasound Medicine (AIUM) to convene a panel to develop a policy on the use of soft markers.
To date, no such panel has been convened.
In the 10 years since writing the editorial, according to Filly, evidence in the medical literature to discount the predictive value of isolated soft markers in diagnosing chromosomal abnormalities has accumulated alongside evidence of negative psychological effects on mothers as a result of being told about them. A busy sonographic practice that sees 10-12 women per day might discover one of these soft markers daily, he points out.
“My opinion is that [a finding of an isolated soft marker on ultrasound] should not be reported to low-risk women. I don’t care how clever the doctor or the counselor; the most unassailable fact is that once the words leave your tongue, they cannot be dispelled without amniocentesis,” he told me.
Anxiety in pregnancy is hardly innocuous; studies have linked it to increased risk for pre-term birth, sub-optimal neuromotor development, asthma, and postpartum depression.
In the end, fear of liability may trump concern for the mother’s state of mind. Dr. Michael Applebaum, MD is board-certified in Diagnostic Radiology and runs a diagnostic imaging practice in Chicago.
“For as long as it is standard of care to report findings that may be abnormal, liability may be found,” he told me.
For the remainder of my pregnancy, I was filled with dread. Even as the baby grew vigorous, kicking at my insides, I wondered what might be next. Perhaps the heartbeat would be too fast, or slow? Would my belly measure within dates? What other, as-yet unimagined metric of fetal health might put my baby under suspicion?
Even after my daughter was born perfect and healthy the following April, I appraised her with trepidation. Did her head look a little small? Was her cry a bit high-pitched? Was she not stepping all the way down on her heels? It took me most of her first year to be convinced that she was indeed all right.
I worry about the unsuspecting moms who will go to their routine 18-week ultrasound today, especially the 1-2 percent who will be told their fetus has a choroid plexus cyst, the 10 percent with an echogenic intracardiac focus, and the 1 percent with an echogenic bowel – all “soft marker” variants.
What will they be told? How will they know what to do?